4Yatsenko SA,Brundage EK,Roney EK,et al.Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome[J].Human Mol Genet,2009,18:1924-1936.
5Balemans MC,Ansar M,Oudakker AR,et al.Reduced euchromatin histone methyltransferase 1 causes developmental delay,hypotonia,and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice[J].Dev Biol,2014,386:395-407.
6Knight SJ,Regan R,Nicod A,et al.Subtle chromosomal rearrangements in children with unexplained mental retardation[J].Lancet,1999,354:1676-1681.
7Kleefstra T,Smidt M,Banning MJ,et al.Disruption of the gene euchromatin histone methyl transferasel (Eu-HMTasel) is associated with the 9q34 subtelomeric deletion syndrome[J].J Med Genet,2005,42:299-306.
8Willemsen MH,Vulto-van Silfhout AT,Nillesen WM,et al.Update on Kleefstra syndrome[J].Mol syndromol,2011,2:202-212.
9Willemsen MH,Beunders G,Callaghan M,et al.Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions[J].Clin Genet,2011,80:31-38.
二级参考文献73
1Meeschler JB,Shevell M,American Academy of Pediatrics Committee on Genetics.Clinical genetic evaluation of the child with mental retardation or developmental delays[J].Pediatrics,2006,117(6):2304-2316.
2Shevell M,Ashwal S,Donley D,et al.Practice parameter:evaluation of the child with global developmental delay:report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society[J].Neurology,2003,60(3):367-380.
3Shaffer LG,American College of Medical Genetics Professional Practice and Guidelines Committee.American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation[J].Genet Med,2005,7(9):650-654.
4Leonard H,Wen X.The epidemiology of mental retardation:challenges and opportunities in the new millennium[J].Ment Retard Der Disabil Res Rev,2002,8(3):117-134.
6Battaglia A,Cagey JC.Diagnostic evaluateon of developmental delay/ mental retardation:an overview[J].Am J Med Genet C Semin Med Genet,2003,117C:3-14.
7Mao R,Pevsner J.The use of genomic microbarrays to study chromosomal abnormalities in mental retardation[J].Ment Retard Der Disabil Res Rev,2005,11 (4):279-285.
8Wu Y,Ji T,Wang J,et al.Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation[J].BMC Medical Genetics,2010,11:72.
9Vissers LE,de Vries BB,Oseegawa K,et al.Array-based comparative genomic hybridization for genomewide detection of submicroscopic chromosomal abnormalities[J].Am J Hum Genet,2003,73(6):1261-1270.
10Vermeulen S,Menten B,Van Roy N,et al.Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations:delineation of 7q21.11 breakpoints[J].Am J Med Genet A,2004,124A(1):10-18.
